Variant position: 1613 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 2813 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human SQGDREQAPNLVYMVTGNPA SDEIKRLPGDIQVVPIGVGPN
Mouse SQGDRVEAPNLVYMVTGNPA SDEIKRLPGDIQVVPIGVGPH
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Molecular basis of von Willebrand disease type IIB. Candidate mutations cluster in one disulfide loop between proposed platelet glycoprotein Ib binding sequences.
Randi A.M.; Rabinowitz I.; Mancuso D.J.; Mannucci P.M.; Sadler J.E.;
J. Clin. Invest. 87:1220-1226(1991)
Cited for: VARIANTS VWD2 TRP-1306; CYS-1308 AND PRO-1613;
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